Efficacy and safety of topical sirolimus in the treatment of facial angiofibromas in children with tuberous sclerosis complex

Objective To investigate the efficacy and safety of sirolimus 0.1% ointment in the treatment of facial angiofibromas in children with tuberous sclerosis complex. Methods Sirolimus 0.1% ointment was prepared. Twenty children with tuberous sclerosis complex who had facial angiofibromas were enrolled in this study. Facial angiofibromas were topically treated with the self-prepared sirolimus 0.1% ointment twice a day for 12 weeks. The facial angiofibroma severity index (FASI)was calculated, the degree of satisfaction with the treatment was evaluated, and adverse reactions were analyzed at weeks 4 and 12. Plasma sirolimus concentrations as well as blood biochemical and immunological parameters were measured, blood coagulation activity was evaluated, and routine blood tests as well as urine tests were performed at baseline and week 12. Results The FASI of patients significantly decreased at weeks 4 (4.400±1.284)and 12 (2.975±1.543)compared with that at baseline (5.750±1.175, both P < 0.000 1), and was significantly lower at week 12 than at week 4 (P < 0.000 1). The efficacy index was 49.87%±22.08% at week 12, significantly higher than that at week 4 (24.43%±10.18%, t = 7.338, P < 0.01). The color, size and number of lesions significantly decreased in all the patients, and facial angiofibromas completely disappeared in 2 patients at week 12. At week 4, 10 parents were satisfied with the improvement of erythema, 3 parents with that of lesion volume, and 3 parents with that of lesion area. The degree of parent satisfaction increased at week 12 in all the cases. The blood concentration of sirolimus was lower than 1.0 μg/L both before and after the treatment. No severe systemic or local adverse reactions were noted in these patients. Conclusion Sirolimus 0.1% ointment is markedly effective and safe for the treatment of facial angiofibromas in patients with tuberous sclerosis complex. Key words: Tuberous sclerosis; Angiofibroma; Sirolimus; Treatment outcome